ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580306862
Gene: PABPN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2292922
ClinVar RCV Id:
RCV002849811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004634.1:p.Gly16Cys
CA388967057
NM_004643.4:c.46G>T