ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689653
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001909255
RCV003156838
ClinVar Variation:
1407394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln516Lys
CA10598657
NM_007297.4:c.1546C>A