ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829875070
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000081803
RCV000312026
RCV000369008
RCV000667593
RCV000710196
RCV001079365
RCV001449947
RCV004528294
ClinVar Variation:
95759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Val101Ile
CA148807
NM_017739.4:c.301G>A