ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA350506
Gene: INVS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220405
ClinVar RCV Id:
RCV000206479
RCV001095342
RCV000595326
RCV003937782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055240.2:p.Val649Met
CA350505
NM_014425.5:c.1945G>A