ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687828
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111493
RCV000570460
RCV001312407
ClinVar Variation:
55742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Met250Lys
CA003951
NM_007297.4:c.749T>A