ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148644
Gene: INVS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081631
RCV000473554
RCV001166401
RCV003221802
ClinVar Variation:
95599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055240.2:p.Ser242Leu
CA148643
NM_014425.5:c.725C>T