ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829696952
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418578
ClinVar RCV Id:
RCV000484213
RCV001077648
RCV001228454
RCV003153657
RCV002350051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1666Ile
CA10591268
NM_007297.4:c.4996G>A