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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:
CA651582775
Gene: HOXA13
HGNC
NCBI
Linked Data
COSMIC:
COSN15660938
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27198083dup , CM000669.2:g.27198083dup
GRCh38
NC_000007.13:g.27237702dup , CM000669.1:g.27237702dup
GRCh37
NC_000007.12:g.27204227dup
NCBI36
NG_008181.1:g.7024dup
NG_008181.2:g.7024dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000649031.1:c.*115dup
MANE Select
ENSP00000497112.1:n.*115dup
ENST00000222753.5:c.*115dup
ENSP00000222753.4:n.*115dup
NM_000522.4:c.*115dup
NP_000513.2:n.*115dup
XM_011515344.1:c.*115dup
XP_011513646.1:n.*115dup
NM_000522.5:c.*115dup
MANE Select
NP_000513.2:n.*115dup
Search 100 bp 5'
Search 100 bp 3'