ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691500
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002942629
RCV003157306
ClinVar Variation:
2061314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser821Leu
CA10596788
NM_007297.4:c.2462C>T