ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691170
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130461
RCV000590796
RCV000700778
RCV003998060
ClinVar Variation:
141806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn752Ser
CA001593
NM_007297.4:c.2255A>G