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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2682147494
Gene: HOXA13
HGNC
NCBI
Linked Data
gnomAD v4:
7-27198080-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27198081dup , CM000669.2:g.27198081dup
GRCh38
NC_000007.13:g.27237700dup , CM000669.1:g.27237700dup
GRCh37
NC_000007.12:g.27204225dup
NCBI36
NG_008181.1:g.7026dup
NG_008181.2:g.7026dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649031.1:c.*117dup
MANE Select
ENSP00000497112.1:n.*117dup
ENST00000222753.5:c.*117dup
ENSP00000222753.4:n.*117dup
NM_000522.4:c.*117dup
NP_000513.2:n.*117dup
XM_011515344.1:c.*117dup
XP_011513646.1:n.*117dup
NM_000522.5:c.*117dup
MANE Select
NP_000513.2:n.*117dup
Search 100 bp 5'
Search 100 bp 3'