ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230888
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1407735
ClinVar RCV Id:
RCV001918590
RCV002331434
RCV003475160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala159Ser
CA356738652
NM_003924.4:c.475G>T