ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246542
Gene: GCK
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.342962142
Linked Data - NCBI & NCI
ClinVar Allele:
195211
ClinVar RCV:
RCV000711778
RCV002272161
RCV002354464
RCV003883139
ClinVar Variation:
198050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000153.1:p.Ala201Ser
CA246541
NM_000162.5:c.601G>T