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ClinGen Allele Registry
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Canonical Allele Identifier:
CA1755206
Community Standard Title: NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)
Gene: RPIA
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88729326C>T , CM000664.2:g.88729326C>T
GRCh38
NC_000002.11:g.89028844C>T , CM000664.1:g.89028844C>T
GRCh37
NC_000002.10:g.88809959C>T
NCBI36
NG_016710.1:g.42669C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_144563.3:c.451C>T
MANE Select
NP_653164.2:p.Arg151Ter
ENST00000283646.5:c.451C>T
MANE Select
ENSP00000283646.3:p.Arg151Ter
NM_144563.2:c.451C>T
NP_653164.2:p.Arg151Ter
ENST00000283646.4:c.451C>T
ENSP00000283646.3:p.Arg151Ter
XR_939673.1:n.502C>T
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