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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:
CA2671938154
Gene: ANXA5
HGNC
NCBI
Linked Data
gnomAD v4:
4-121696998-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121696999del , CM000666.2:g.121696999del
GRCh38
NC_000004.11:g.122618154del , CM000666.1:g.122618154del
GRCh37
NC_000004.10:g.122837604del
NCBI36
NG_032042.1:g.4994del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296511.9:c.-172del
ENSP00000296511.5:n.-172del
Search 100 bp 5'
Search 100 bp 3'