ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690968
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240782
ClinVar RCV Id:
RCV000229310
RCV000772153
RCV003477832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser706Asn
CA10583572
NM_007297.4:c.2117G>A