ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093038
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500451
ClinVar RCV Id:
RCV000593050
RCV000796528
RCV001829664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Pro6Ser
CA340193306
NM_017739.4:c.16C>T