ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697746
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17695
ClinVar RCV Id:
RCV000019265
RCV000496817
RCV001526335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Met1728Lys
CA003476
NM_007297.4:c.5183T>A