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ClinGen Allele Registry
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Canonical Allele Identifier:
CA119976
Community Standard Title: NM_002181.4(IHH):c.298G>A (p.Asp100Asn)
Gene: IHH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060170C>T , CM000664.2:g.219060170C>T
GRCh38
NC_000002.11:g.219924892C>T , CM000664.1:g.219924892C>T
GRCh37
NC_000002.10:g.219633136C>T
NCBI36
NG_016741.1:g.5347G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_002181.4:c.298G>A
MANE Select
NP_002172.2:p.Asp100Asn
ENST00000295731.7:c.298G>A
MANE Select
ENSP00000295731.5:p.Asp100Asn
NM_002181.3:c.298G>A
NP_002172.2:p.Asp100Asn
ENST00000295731.6:c.298G>A
ENSP00000295731.5:p.Asp100Asn
Search 100 bp 5'
Search 100 bp 3'