ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826335623
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000240954
RCV001333961
RCV001854940
RCV003133196
RCV003479082
ClinVar Variation:
254270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Ile287Ser
CA833593
NM_001243766.2:c.860T>G